T14N (p.Thr14Asn) variant of MUSK (O15146)
T14N (p.Thr14Asn) in MUSK (O15146) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
T14N (p.Thr14Asn) variant details
- p.Thr14Asn
- rs863223335
- gnomAD 9-110668943-T-TA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 26.10
- Population evidence available
- Structural context available
- Cited in: MuSK: a new target for lethal fetal akinesia deformation sequence (FADS). (PMID 25612909)